{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,4]],"date-time":"2026-05-04T04:35:38Z","timestamp":1777869338014,"version":"3.51.4"},"reference-count":41,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2026,4,30]],"date-time":"2026-04-30T00:00:00Z","timestamp":1777507200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["frontiersin.org"],"crossmark-restriction":true},"short-container-title":["Front. Med."],"abstract":"\n Purposes<\/jats:title>\n Gene mutations identified through next-generation sequencing (NGS) have been increasingly recognised for their clinical significance in myeloid malignancies. However, data concerning Chinese populations remain limited. This study aimed to characterise mutation profiles in Chinese patients with myeloid malignancies and to evaluate the associations of genetic alterations with clinical features, disease progression, and prognosis.<\/jats:p>\n <\/jats:sec>\n \n Methods<\/jats:title>\n \n Targeted sequencing using a 110-gene panel was performed on 184 samples derived from 174 patients diagnosed with acute myeloid leukaemia (AML,\n n<\/jats:italic>\n \u202f=\u202f108), myelodysplastic syndromes (MDS,\n n<\/jats:italic>\n \u202f=\u202f66), and chronic myelomonocytic leukaemia (CMML,\n n<\/jats:italic>\n \u202f=\u202f10). Prognostic relevance of clinical variables, gene mutations, and single nucleotide polymorphisms (SNPs) was assessed using univariate and multivariate Cox regression analyses.\n <\/jats:p>\n <\/jats:sec>\n \n Results<\/jats:title>\n \n In newly diagnosed AML cases, the most frequently mutated genes included\n FLT3<\/jats:italic>\n (19%),\n NPM1<\/jats:italic>\n (19%),\n DNMT3A<\/jats:italic>\n (17%), and\n NRAS<\/jats:italic>\n (17%). In MDS, mutations in\n DNMT3A<\/jats:italic>\n (21%),\n TP53<\/jats:italic>\n (21%), and\n TET2<\/jats:italic>\n (19%) were most prevalent. Among CMML patients,\n ASXL1<\/jats:italic>\n and\n SRSF2<\/jats:italic>\n mutations were observed in 50%, and\n RUNX1<\/jats:italic>\n in 40% of cases. A significantly higher incidence of\n WT1<\/jats:italic>\n mutations was observed in relapsed AML compared with newly diagnosed cases. In patients with secondary AML transformed from CMML,\n NPM1<\/jats:italic>\n and\n FAT1<\/jats:italic>\n mutations occurred at significantly higher frequencies than in CMML alone. Specific SNPs in\n FAT1<\/jats:italic>\n ,\n PDGFRA<\/jats:italic>\n ,\n SETBP1<\/jats:italic>\n , and\n KMT2C<\/jats:italic>\n were associated with poorer prognosis in AML. In MDS,\n TP53<\/jats:italic>\n mutations,\n FAT1<\/jats:italic>\n \/\n IL7R<\/jats:italic>\n SNPs, and elevated peripheral blood blast percentages were identified as adverse prognostic indicators.\n <\/jats:p>\n <\/jats:sec>\n \n Conclusion<\/jats:title>\n Targeted NGS revealed distinct mutational landscapes in Chinese patients with AML, MDS, and CMML. These findings demonstrated associations between genetic alterations and clinical features, disease progression, and prognosis in Chinese patients with myeloid malignancies. However, the prognostic associations should be interpreted cautiously, as none of the evaluated variables remained independent prognostic factors in multivariate models.<\/jats:p>\n <\/jats:sec>","DOI":"10.3389\/fmed.2026.1773307","type":"journal-article","created":{"date-parts":[[2026,4,30]],"date-time":"2026-04-30T13:33:04Z","timestamp":1777555984000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":0,"title":["Genomic characterisation of Chinese myeloid malignancies and its clinical correlates: insights from targeted next-generation sequencing"],"prefix":"10.3389","volume":"13","author":[{"given":"Pengjun","family":"Liao","sequence":"first","affiliation":[{"name":"Guangdong Provincial People\u2019s Hospital, Guangdong Academy of Medical Sciences, Southern Medical University","place":["Guangzhou, China"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ruohao","family":"Xu","sequence":"additional","affiliation":[{"name":"Guangdong Provincial People\u2019s Hospital, Guangdong Academy of Medical Sciences, Southern Medical University","place":["Guangzhou, China"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Suxia","family":"Geng","sequence":"additional","affiliation":[{"name":"Guangdong Provincial People\u2019s Hospital, Guangdong Academy of Medical Sciences, Southern Medical University","place":["Guangzhou, China"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Chengxin","family":"Deng","sequence":"additional","affiliation":[{"name":"Guangdong Provincial People\u2019s Hospital, Guangdong Academy of Medical Sciences, Southern Medical University","place":["Guangzhou, China"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xin","family":"Huang","sequence":"additional","affiliation":[{"name":"Guangdong Provincial People\u2019s Hospital, Guangdong Academy of Medical Sciences, Southern Medical University","place":["Guangzhou, China"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ping","family":"Wu","sequence":"additional","affiliation":[{"name":"Guangdong Provincial People\u2019s Hospital, Guangdong Academy of Medical Sciences, Southern Medical University","place":["Guangzhou, China"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Minming","family":"Li","sequence":"additional","affiliation":[{"name":"Guangdong Provincial People\u2019s Hospital, Guangdong Academy of Medical Sciences, Southern Medical University","place":["Guangzhou, China"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lingji","family":"Zeng","sequence":"additional","affiliation":[{"name":"Guangdong Provincial People\u2019s Hospital, Guangdong Academy of Medical Sciences, Southern Medical University","place":["Guangzhou, China"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Peilong","family":"Lai","sequence":"additional","affiliation":[{"name":"Guangdong Provincial People\u2019s Hospital, Guangdong Academy of Medical Sciences, Southern Medical University","place":["Guangzhou, China"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jianyu","family":"Weng","sequence":"additional","affiliation":[{"name":"Guangdong Provincial People\u2019s Hospital, Guangdong Academy of Medical Sciences, Southern Medical University","place":["Guangzhou, China"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xin","family":"Du","sequence":"additional","affiliation":[{"name":"Guangdong Provincial People\u2019s Hospital, Guangdong Academy of Medical Sciences, Southern Medical University","place":["Guangzhou, China"]}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1965","published-online":{"date-parts":[[2026,4,30]]},"reference":[{"key":"ref1","doi-asserted-by":"publisher","first-page":"70","DOI":"10.1016\/j.blre.2019.04.005","article-title":"Epidemiology of acute myeloid leukemia: recent progress and enduring challenges","volume":"36","author":"Shallis","year":"2019","journal-title":"Blood Rev"},{"key":"ref2","doi-asserted-by":"publisher","first-page":"460","DOI":"10.1182\/hematology.2020000163","article-title":"Myelodysplastic syndrome\/myeloproliferative neoplasm overlap syndromes: a focused review","volume":"2020","author":"Patnaik","year":"2020","journal-title":"Hematology Am Soc Hematol Educ Program"},{"key":"ref3","doi-asserted-by":"publisher","first-page":"2763","DOI":"10.1111\/cas.15427","article-title":"Feasibility and clinical utility of comprehensive genomic profiling of hematological malignancies","volume":"113","author":"Fukuhara","year":"2022","journal-title":"Cancer Sci"},{"key":"ref4","doi-asserted-by":"publisher","first-page":"1610","DOI":"10.3390\/cancers13071610","article-title":"Risk-adapted, individualized treatment strategies of myelodysplastic syndromes (MDS) and chronic Myelomonocytic leukemia (CMML)","volume":"13","author":"Bewersdorf","year":"2021","journal-title":"Cancers (Basel)"},{"key":"ref5","doi-asserted-by":"publisher","first-page":"11510","DOI":"10.3390\/ijms222111510","article-title":"Mouse models of CMML","volume":"22","author":"Belotserkovskaya","year":"2021","journal-title":"Int J Mol Sci"},{"key":"ref6","doi-asserted-by":"publisher","first-page":"497","DOI":"10.1093\/ajcp\/aqw016","article-title":"Targeted next-generation sequencing in myelodysplastic syndrome and chronic Myelomonocytic leukemia aids diagnosis in challenging cases and identifies frequent spliceosome mutations in transformed acute myeloid leukemia","volume":"145","author":"Reinig","year":"2016","journal-title":"Am J Clin Pathol"},{"key":"ref7","doi-asserted-by":"publisher","first-page":"49","DOI":"10.1097\/MOH.0000000000000567","article-title":"Driver mutations in acute myeloid leukemia","volume":"27","author":"Kishtagari","year":"2020","journal-title":"Curr Opin Hematol"},{"key":"ref8","doi-asserted-by":"publisher","first-page":"5734","DOI":"10.3390\/ijms24065734","article-title":"The genetic landscape of myelodysplastic neoplasm progression to acute myeloid leukemia","volume":"24","author":"B\u0103nescu","year":"2023","journal-title":"Int J Mol Sci"},{"key":"ref9","doi-asserted-by":"publisher","first-page":"50","DOI":"10.1182\/blood.2019000942","article-title":"Genetics of progression from MDS to secondary leukemia","volume":"136","author":"Menssen","year":"2020","journal-title":"Blood"},{"key":"ref10","doi-asserted-by":"publisher","first-page":"506","DOI":"10.1038\/nature10738","article-title":"Clonal evolution in relapsed acute myeloid leukaemia revealed by whole-genome sequencing","volume":"481","author":"Ding","year":"2012","journal-title":"Nature"},{"key":"ref11","doi-asserted-by":"publisher","first-page":"4647","DOI":"10.3390\/ijms23094647","article-title":"Single-nucleotide variations, insertions\/deletions and copy number variations in myelodysplastic syndrome during disease progression revealed by a single-cell DNA sequencing platform","volume":"23","author":"Lee","year":"2022","journal-title":"Int J Mol Sci"},{"key":"ref12","doi-asserted-by":"publisher","first-page":"1345","DOI":"10.1182\/blood.2022016867","article-title":"Diagnosis and management of AML in adults: 2022 recommendations from an international expert panel on behalf of the ELN","volume":"140","author":"D\u00f6hner","year":"2022","journal-title":"Blood"},{"key":"ref13","doi-asserted-by":"publisher","first-page":"1307","DOI":"10.1002\/ajh.26984","article-title":"Myelodysplastic syndromes: 2023 update on diagnosis, risk-stratification, and management","volume":"98","author":"Garcia-Manero","year":"2023","journal-title":"Am J Hematol"},{"key":"ref14","doi-asserted-by":"publisher","first-page":"804961","DOI":"10.3389\/fonc.2022.804961","article-title":"Impact of IDH1 c.315C>T SNP on outcomes in acute myeloid leukemia: a propensity score-adjusted cohort study","volume":"12","author":"Corley","year":"2022","journal-title":"Front Oncol"},{"key":"ref15","doi-asserted-by":"publisher","first-page":"379","DOI":"10.1002\/gcc.22540","article-title":"Correlation of TET2 SNP rs2454206 with improved survival in children with acute myeloid leukemia featuring intermediate-risk cytogenetics","volume":"57","author":"Wang","year":"2018","journal-title":"Genes Chromosomes Cancer"},{"key":"ref16","doi-asserted-by":"publisher","first-page":"1703","DOI":"10.1038\/s41375-022-01613-1","article-title":"The 5th edition of the World Health Organization classification of Haematolymphoid Tumours: myeloid and histiocytic\/dendritic neoplasms","volume":"36","author":"Khoury","year":"2022","journal-title":"Leukemia"},{"key":"ref17","doi-asserted-by":"publisher","first-page":"2209","DOI":"10.1056\/NEJMoa1516192","article-title":"Genomic classification and prognosis in acute myeloid leukemia","volume":"374","author":"Papaemmanuil","year":"2016","journal-title":"N Engl J Med"},{"key":"ref18","doi-asserted-by":"publisher","first-page":"1049","DOI":"10.1182\/blood-2018-10-844621","article-title":"Genetics of MDS","volume":"133","author":"Ogawa","year":"2019","journal-title":"Blood"},{"key":"ref19","doi-asserted-by":"publisher","first-page":"2059","DOI":"10.1056\/NEJMoa1301689","article-title":"Genomic and epigenomic landscapes of adult de novo acute myeloid leukemia","volume":"368","author":"Ley","year":"2013","journal-title":"N Engl J Med"},{"key":"ref20","doi-asserted-by":"publisher","first-page":"352","DOI":"10.1002\/ajh.26455","article-title":"Chronic myelomonocytic leukemia: 2022 update on diagnosis, risk stratification, and management","volume":"97","author":"Patnaik","year":"2022","journal-title":"Am J Hematol"},{"key":"ref21","doi-asserted-by":"publisher","first-page":"8457","DOI":"10.1002\/cam4.3467","article-title":"Characteristics and prognostic significance of genetic mutations in acute myeloid leukemia based on a targeted next-generation sequencing technique","volume":"9","author":"Wang","year":"2020","journal-title":"Cancer Med"},{"key":"ref22","doi-asserted-by":"publisher","first-page":"39","DOI":"10.1038\/s41408-018-0074-7","article-title":"Incorporation of mutations in five genes in the revised international prognostic scoring system can improve risk stratification in the patients with myelodysplastic syndrome","volume":"8","author":"Hou","year":"2018","journal-title":"Blood Cancer J"},{"key":"ref23","doi-asserted-by":"publisher","first-page":"32","DOI":"10.1186\/s40164-022-00284-z","article-title":"Mutational landscape of chronic myelomonocytic leukemia in Chinese patients","volume":"11","author":"Nie","year":"2022","journal-title":"Exp Hematol Oncol"},{"key":"ref24","doi-asserted-by":"publisher","first-page":"686","DOI":"10.1182\/blood-2016-01-693879","article-title":"Spectrum and prognostic relevance of driver gene mutations in acute myeloid leukemia","volume":"128","author":"Metzeler","year":"2016","journal-title":"Blood"},{"key":"ref25","doi-asserted-by":"publisher","first-page":"2847","DOI":"10.1182\/bloodadvances.2021006239","article-title":"TP53 mutation defines a unique subgroup within complex karyotype de novo and therapy-related MDS\/AML","volume":"6","author":"Weinberg","year":"2022","journal-title":"Blood Adv"},{"key":"ref26","doi-asserted-by":"publisher","first-page":"950134","DOI":"10.3389\/fimmu.2022.950134","article-title":"Dynamics of PD-1 expression are associated with treatment efficacy and prognosis in patients with intermediate\/high-risk myelodysplastic syndromes under hypomethylating treatment","volume":"13","author":"Geng","year":"2022","journal-title":"Front Immunol"},{"key":"ref27","doi-asserted-by":"publisher","first-page":"942","DOI":"10.3324\/haematol.2009.016386","article-title":"Prognostic implications of mutations and expression of the Wilms tumor 1 (WT1) gene in adult acute T-lymphoblastic leukemia","volume":"95","author":"Heesch","year":"2010","journal-title":"Haematologica"},{"key":"ref28","doi-asserted-by":"publisher","first-page":"1015","DOI":"10.1038\/s41591-018-0081-z","article-title":"Somatic mutations precede acute myeloid leukemia years before diagnosis","volume":"24","author":"Desai","year":"2018","journal-title":"Nat Med"},{"key":"ref29","doi-asserted-by":"publisher","first-page":"59","DOI":"10.1186\/s10020-023-00630-9","article-title":"Mesenchymal stem cells reversibly de-differentiate myofibroblasts to fibroblast-like cells by inhibiting the TGF-\u03b2-SMAD2\/3 pathway","volume":"29","author":"Xu","year":"2023","journal-title":"Mol Med"},{"key":"ref30","doi-asserted-by":"publisher","first-page":"66","DOI":"10.1007\/s11864-020-00765-5","article-title":"Treatment of relapsed acute myeloid leukemia","volume":"21","author":"Thol","year":"2020","journal-title":"Curr Treat Options in Oncol"},{"key":"ref31","doi-asserted-by":"publisher","first-page":"370","DOI":"10.1038\/s41409-021-01538-w","article-title":"Acquired WT1 mutations contribute to relapse of NPM1-mutated acute myeloid leukemia following allogeneic hematopoietic stem cell transplant","volume":"57","author":"El Hussein","year":"2022","journal-title":"Bone Marrow Transplant"},{"key":"ref32","doi-asserted-by":"publisher","first-page":"3541","DOI":"10.1158\/1078-0432.CCR-14-2203","article-title":"Biological activities of RUNX1 mutants predict secondary acute leukemia transformation from chronic Myelomonocytic leukemia and myelodysplastic syndromes","volume":"21","author":"Tsai","year":"2015","journal-title":"Clin Cancer Res"},{"key":"ref33","doi-asserted-by":"publisher","first-page":"847","DOI":"10.1038\/leu.2014.301","article-title":"SETBP1 mutations drive leukemic transformation in ASXL1-mutated MDS","volume":"29","author":"Inoue","year":"2015","journal-title":"Leukemia"},{"key":"ref34","doi-asserted-by":"publisher","first-page":"928","DOI":"10.1111\/bjh.17425","article-title":"Bone marrow mesenchymal stromal cells in chronic myelomonocytic leukaemia: overactivated WNT\/\u03b2-catenin signalling by parallel RNA sequencing and dysfunctional phenotypes","volume":"193","author":"Xu","year":"2021","journal-title":"Br J Haematol"},{"key":"ref35","doi-asserted-by":"publisher","first-page":"5901","DOI":"10.1111\/jcmm.17613","article-title":"Somatic mutations of activating signalling, transcription factor, and tumour suppressor are a precondition for leukaemia transformation in myelodysplastic syndromes","volume":"26","author":"Xu","year":"2022","journal-title":"J Cell Mol Med"},{"key":"ref36","doi-asserted-by":"publisher","first-page":"3025","DOI":"10.3390\/ijms21083025","article-title":"Correlation of RAS-pathway mutations and spontaneous myeloid Colony growth with progression and transformation in chronic Myelomonocytic leukemia-a retrospective analysis in 337 patients","volume":"21","author":"Geissler","year":"2020","journal-title":"Int J Mol Sci"},{"key":"ref37","doi-asserted-by":"publisher","first-page":"942","DOI":"10.1038\/ng.2696","article-title":"Somatic SETBP1 mutations in myeloid malignancies","volume":"45","author":"Makishima","year":"2013","journal-title":"Nat Genet"},{"key":"ref38","first-page":"3651","article-title":"Co-occurrence of RUNX1 and ASXL1 mutations underlie poor response and outcome for MDS patients treated with HMAs","volume":"11","author":"Wu","year":"2019","journal-title":"Am J Transl Res"},{"key":"ref39","doi-asserted-by":"publisher","first-page":"25","DOI":"10.1016\/j.cca.2018.01.006","article-title":"Gene mutation patterns of Chinese acute myeloid leukemia patients by targeted next-generation sequencing and bioinformatic analysis","volume":"479","author":"Han","year":"2018","journal-title":"Clin Chim Acta"},{"key":"ref40","doi-asserted-by":"publisher","first-page":"1144","DOI":"10.3390\/genes12081144","article-title":"The genetics of myelodysplastic syndromes: clinical relevance","volume":"12","author":"Chiereghin","year":"2021","journal-title":"Genes (Basel)"},{"key":"ref41","doi-asserted-by":"publisher","first-page":"270","DOI":"10.1182\/asheducation-2018.1.270","article-title":"The MDS genomics-prognosis symbiosis","volume":"2018","author":"Nazha","year":"2018","journal-title":"Hematology Am Soc Hematol Educ Program"}],"container-title":["Frontiers in Medicine"],"original-title":[],"link":[{"URL":"https:\/\/www.frontiersin.org\/articles\/10.3389\/fmed.2026.1773307\/full","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,4,30]],"date-time":"2026-04-30T13:33:06Z","timestamp":1777555986000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.frontiersin.org\/articles\/10.3389\/fmed.2026.1773307\/full"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,4,30]]},"references-count":41,"alternative-id":["10.3389\/fmed.2026.1773307"],"URL":"https:\/\/doi.org\/10.3389\/fmed.2026.1773307","relation":{},"ISSN":["2296-858X"],"issn-type":[{"value":"2296-858X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,4,30]]},"article-number":"1773307"}}